Genes Contributing to Hereditary Ovarian Cancer in African American Women and BRCA1/2 Wildtype Families
| Status: | Recruiting |
|---|---|
| Conditions: | Ovarian Cancer, Cancer |
| Therapuetic Areas: | Oncology |
| Healthy: | No |
| Age Range: | 18 - Any |
| Updated: | 6/6/2018 |
| Start Date: | April 2013 |
| End Date: | April 2019 |
| Contact: | Jessica Mandell, MS, CGC |
| Email: | jmandell@uw.edu |
| Phone: | 540-389-5328 |
The investigators propose to test for non-BRCA1/2 mutations in new and existing families with
hereditary ovarian cancer in order to better define penetrance and associated malignancies of
rare ovarian cancer susceptibility genes. The hypothesis is at least one third of hereditary
ovarian carcinoma families wildtype for BRCA1/2 can be solved using an updated version of
BROCA (BROCA-HR) that targets 47 genes, including all known ovarian cancer genes and
additional candidate genes in related pathways. The objective is to identify families with
mutations in rare ovarian cancer susceptibility genes and test both affected and unaffected
family members, thereby generating a rough estimate of penetrance for each mutated gene as
well as identify new ovarian cancer susceptibility genes. The investigators also plan to
enroll self identified African America women, who have been drastically under-represented in
clinical cancer genetic testing programs and in OC susceptibility research.
hereditary ovarian cancer in order to better define penetrance and associated malignancies of
rare ovarian cancer susceptibility genes. The hypothesis is at least one third of hereditary
ovarian carcinoma families wildtype for BRCA1/2 can be solved using an updated version of
BROCA (BROCA-HR) that targets 47 genes, including all known ovarian cancer genes and
additional candidate genes in related pathways. The objective is to identify families with
mutations in rare ovarian cancer susceptibility genes and test both affected and unaffected
family members, thereby generating a rough estimate of penetrance for each mutated gene as
well as identify new ovarian cancer susceptibility genes. The investigators also plan to
enroll self identified African America women, who have been drastically under-represented in
clinical cancer genetic testing programs and in OC susceptibility research.
There is more to hereditary ovarian cancer than the breast and ovarian cancer susceptibility
genes BRCA1 and BRCA2 (BRCA1/2). Next generation sequencing techniques have made it possible
to sequence multiple candidate ovarian carcinoma susceptibility genes simultaneously. The
King Laboratory has developed a targeted capture and massively parallel sequencing test
called BROCA to evaluate mutations in known or suspected breast and ovarian cancer genes. In
a prospective series of 360 unselected women with ovarian carcinoma, the investigators found
that nearly one fourth of women carried mutations in one of 13 genes, and mutations in genes
other than BRCA1 and BRCA2 accounted for 26% of all inherited mutations. While BROCA and
similar gene panels are already in clinical use, little is known about the relative risks of
carrying these non-BRCA1/2 mutations, making it difficult to counsel unaffected family
members and develop optimum prevention protocols.
genes BRCA1 and BRCA2 (BRCA1/2). Next generation sequencing techniques have made it possible
to sequence multiple candidate ovarian carcinoma susceptibility genes simultaneously. The
King Laboratory has developed a targeted capture and massively parallel sequencing test
called BROCA to evaluate mutations in known or suspected breast and ovarian cancer genes. In
a prospective series of 360 unselected women with ovarian carcinoma, the investigators found
that nearly one fourth of women carried mutations in one of 13 genes, and mutations in genes
other than BRCA1 and BRCA2 accounted for 26% of all inherited mutations. While BROCA and
similar gene panels are already in clinical use, little is known about the relative risks of
carrying these non-BRCA1/2 mutations, making it difficult to counsel unaffected family
members and develop optimum prevention protocols.
Inclusion Criteria:
- ovarian cancer diagnosis with secondary criteria as noted above
Exclusion Criteria:
- age less than 18 yrs
We found this trial at
1
site
Seattle, Washington 98104
(206) 543-2100
Principal Investigator: Elizabeth Swisher, MD
Phone: 206-685-7927
Univ of Washington Founded in 1861 by a private gift of 10 acres in what...
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